ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)

gnomAD frequency: 0.00001  dbSNP: rs1438433663
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843193 SCV001349733 likely benign Cardiac arrhythmia 2019-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001530096 SCV001620560 likely benign not provided 2024-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001530096 SCV001944464 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348620 SCV002652087 likely benign Cardiovascular phenotype 2021-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001843193 SCV004816435 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001701300 SCV006069386 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530096 SCV001744719 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701300 SCV001924362 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001530096 SCV001927661 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530096 SCV001975674 likely benign not provided no assertion criteria provided clinical testing

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